Craig Mayer, Nick WIlliams, Vojtech Huser
Lister Hill National Center for Biomedical Communications, National Library of Medicine, NIH, Bethesda, MD

See the full regCTG repository at https://github.com/lhncbc/CRI/tree/master/regCTG

To return to the list of conditions and view other reports go to https://lhncbc.github.io/CRI/regCTG/regCTG-condition_report_links.html


Study Counts

Type Study_count
Total_Studies 147
interventional 74
Observational 67
Registry 6

Studies over Time by Start Date

```

Interventional Trials

Intervention Type

intervention_type Study_Count
Drug 26
Drug|placebo 18
Genetic 8
Other 4
Drug|Other 3
Procedure 3
Behavioral 2
Diagnostic Test 2
Behavioral|Diagnostic Test 1
Biological 1
Biological|placebo 1
Device 1
Diagnostic Test|Genetic|Other 1
Diagnostic Test|Procedure 1
Drug|Other|placebo 1
Genetic|Other 1

Count of Studies by Intervention (normalized and mapped)

Interventions over Time

Yearly studies for each intervention by start date

Studies by Country

Country Study_Count
United States 28
France 5
Belgium 4
Canada 4
Netherlands 4
Australia 2
Netherlands|Romania 2
Sweden 2
United Kingdom 2
United States|Brazil|Canada|Singapore|South Africa|Taiwan|United Kingdom 2
China 1
Germany|Israel 1
Israel 1
Italy 1
Japan 1
Japan|United States|Australia|Brazil|Bulgaria|Canada|China|Hong Kong|India|Jordan|Korea, Republic of|Malaysia|Mexico|Poland|Puerto Rico|Russian Federation|Sri Lanka|Taiwan|Thailand|Turkey 1
Korea, Republic of 1
Spain 1
United States|Argentina|Belgium|Brazil|Bulgaria|Canada|Chile|China|Germany|Israel|Italy|Latvia|Mexico|Netherlands|Poland|Romania|Russian Federation|Serbia|Slovakia|Spain|Taiwan 1
United States|Australia|Belgium|Brazil|Bulgaria|Canada|Chile|Czechia|France|Germany|Israel|Italy|Korea, Republic of|Poland|Spain|Sweden|Switzerland|Turkey|United Kingdom 1
United States|Australia|Belgium|Brazil|Canada|Chile|Czechia|France|Germany|Israel|Italy|Korea, Republic of|Poland|Spain|Sweden|Switzerland|Turkey|United Kingdom 1
United States|Australia|Bulgaria|Canada|Chile|Czechia|Germany|Hungary|Italy|Japan|Korea, Republic of|Latvia|Mexico|Poland|Slovakia|Spain|Taiwan|United Kingdom 1
United States|Australia|Canada|France|Germany|Israel|Italy|Netherlands|New Zealand|Poland|Spain|United Kingdom 1
United States|Belgium 1
United States|Belgium|Canada|France 1
United States|Belgium|Canada|France|Germany|Netherlands|United Kingdom 1
United States|Canada|Germany|Italy|United Kingdom 1
United States|Canada|Germany|Netherlands|Spain|United Kingdom 1
United States|France|Germany|Netherlands|United Kingdom 1

Sites per Study

Site_count Study_Count
1 40
2 6
3 2
4 2
5 2
6 3
7 2
8 1
9 1
10 1
15 1
17 1
18 1
19 1
24 1
27 1
28 1
33 1
46 1
55 1
58 1
86 1
216 1
242 1

Phase

Phase Study_Count
N/A 20
Phase 2 17
Phase 3 16
Phase 1/Phase 2 8
Phase 2/Phase 3 5
Phase 1 4
Phase 4 4

Number of Arms

Number_of_Arms Count_of_Studies
1 24
2 35
3 5
4 3
5 3
9 1
10 1
NA 2

Enrollment Metrics by Phase

Measure N.A Phase.1 Phase.1.Phase.2 Phase.2 Phase.2.Phase.3 Phase.3 Phase.4
Min. 10.00 8.0 11.00 14.00000 14 22.00 30.00
1st Qu. 68.75 15.5 17.00 20.00000 30 50.75 30.75
Median 292.00 24.0 21.50 26.00000 60 89.50 48.00
Mean 11471.70 29.5 24.50 52.64706 57 222.25 57.25
3rd Qu. 1207.50 38.0 31.25 78.00000 80 221.75 74.50
Max. 102000.00 62.0 45.00 200.00000 101 1223.00 103.00

Trial Group Type

group_type Group_Count
Experimental 86
Placebo Comparator 29
Active Comparator 21
Other 12
No Intervention 5
Sham Comparator 2
NA 2

Intervention Model

intervention_model Study_Count
Parallel Assignment 42
Single Group Assignment 27
Sequential Assignment 3
Crossover Assignment 2

Primary Purpose

primary_purpose Study_Count
Treatment 55
Diagnostic 10
Health Services Research 4
Prevention 2
Basic Science 1
Other 1
Screening 1

Observational Studies

Studies by Country

Country Study_Count
United States 28
France 5
China 4
Japan 4
NA 3
United States|Canada 3
Denmark 2
Germany 2
Argentina|Belgium|Czechia|Denmark|Finland|France|Germany|Hungary|Ireland|Israel|Italy|Lithuania|Luxembourg|Netherlands|Norway|Russian Federation|Saudi Arabia|Serbia|Slovenia|Spain|Sweden|Switzerland|United Kingdom 1
Denmark|Germany|Switzerland 1
Hong Kong 1
Israel 1
Korea, Republic of 1
Netherlands 1
South Africa 1
Spain 1
United Arab Emirates 1
United Kingdom 1
United States|Australia|Canada|Thailand 1
United States|Finland|Iceland|Sweden 1
United States|France|Germany|Netherlands 1
United States|Germany|Italy 1
United States|Sierra Leone 1
United States|Turkey 1

Sites per Study

Site_count Study_Count
1 47
2 5
3 3
4 1
5 1
7 2
8 2
9 2
11 1
17 1
22 1
23 1

Enrollment Metrics

Measure Observational
Min 3.000
1st Qu 79.000
Median 395.000
Mean 2897.881
3rd Qu 1145.000
Max 100000.000

Observation Model

observational_model Study_Count
Cohort 35
Case-Only 9
Other 6
Family-Based 5
NA 5
Case-Control 4
Case Control 2
Ecologic or Community 1

Time Perspective

time_perspective Study_Count
Prospective 41
Cross-Sectional 11
Retrospective 6
Other 5
NA 4

Registries

Studies by Country

Country Study_Count
United States 3
Italy 1
Netherlands 1
Turkey 1

Sites per Study

Site_count Study_Count
1 4
3 1
9 1

Enrollment Metrics

Measure Registries
Min 1.000
1st Qu 158.500
Median 342.000
Mean 1401.833
3rd Qu 2057.000
Max 5000.000

Registry Model

observational_model Study_Count
Cohort 3
Case-Only 2
Case Control 1

Time Perspective

time_perspective Study_Count
Prospective 4
Cross-Sectional 1
Other 1

Follow-up

target_duration Study_Count
3 Years 3
1 Day 1
6 Months 1
8 Years 1

Overview of Studies

Interventional Trials

#If less then 500 trials

nct_id brief_title link overall_status source primary_completion_date
NCT03479476 A Trial of Metformin in Individuals With Fragile X Syndrome https://ClinicalTrials.gov/show/NCT03479476 Recruiting University of California, Davis 2021-05-31
NCT03406780 A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy https://ClinicalTrials.gov/show/NCT03406780 Completed Capricor Inc. 2020-03-10
NCT03380819 The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care https://ClinicalTrials.gov/show/NCT03380819 Enrolling by invitation VA Boston Healthcare System 2020-12-31
NCT03342495 Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator Trial https://ClinicalTrials.gov/show/NCT03342495 Recruiting University of Calgary 2019-12-31
NCT03309605 Phase 1 Study of ELX-02 in Healthy Adult Subjects https://ClinicalTrials.gov/show/NCT03309605 Completed Eloxx Pharmaceuticals, Inc. 2019-06-17
NCT03301038 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria https://ClinicalTrials.gov/show/NCT03301038 Recruiting Children’s Hospital of Philadelphia 2023-12-31
NCT03292302 Phase 1 Study of ELX-02 in Healthy Adults https://ClinicalTrials.gov/show/NCT03292302 Completed Eloxx Pharmaceuticals, Inc. 2017-12-15
NCT03211039 Perinatal Precision Medicine https://ClinicalTrials.gov/show/NCT03211039 Active, not recruiting Rady Pediatric Genomics & Systems Medicine Institute 2019-08-30
NCT03179631 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy https://ClinicalTrials.gov/show/NCT03179631 Recruiting PTC Therapeutics 2023-09-05
NCT03013543 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity https://ClinicalTrials.gov/show/NCT03013543 Recruiting Rhythm Pharmaceuticals, Inc. 2021-05-31
NCT02917460 Rady Children’s Institute Genomic Biorepository https://ClinicalTrials.gov/show/NCT02917460 Recruiting Rady Pediatric Genomics & Systems Medicine Institute 2050-12-31
NCT02777931 Efficacy and Safety of NFC-1 in Adolescents With Genetic Disorders Impacting mGluR and ADHD https://ClinicalTrials.gov/show/NCT02777931 Completed Aevi Genomic Medicine, LLC, a Cerecor company 2017-02-10
NCT02642653 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome https://ClinicalTrials.gov/show/NCT02642653 Completed University of California, Davis 2018-07-31
NCT02826694 North Carolina Newborn Exome Sequencing for Universal Screening https://ClinicalTrials.gov/show/NCT02826694 Completed University of North Carolina, Chapel Hill 2019-06-30
NCT02422511 Genomic Sequencing for Childhood Risk and Newborn Illness https://ClinicalTrials.gov/show/NCT02422511 Active, not recruiting Brigham and Women’s Hospital 2020-04-30
NCT03385876 Rapid Whole Genome Sequencing Study https://ClinicalTrials.gov/show/NCT03385876 Enrolling by invitation Rady Pediatric Genomics & Systems Medicine Institute 2050-12-31
NCT02225522 Genomic Sequencing in Acutely Ill Neonates https://ClinicalTrials.gov/show/NCT02225522 Completed Children’s Mercy Hospital Kansas City 2016-07-31
NCT02090959 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy https://ClinicalTrials.gov/show/NCT02090959 Completed PTC Therapeutics 2018-06-21
NCT03354013 Genetic Screening and Assisted Oocyte Activation in Couples With Diminished/Aberrant Embryonic Development. https://ClinicalTrials.gov/show/NCT03354013 Recruiting University Hospital, Ghent 2021-12-31
NCT01927861 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome https://ClinicalTrials.gov/show/NCT01927861 Completed Novo Nordisk A/S 2018-07-12
NCT01902901 Clinical Implementation of Carrier Status Using Next Generation Sequencing https://ClinicalTrials.gov/show/NCT01902901 Completed Kaiser Permanente 2017-01-31
NCT01826487 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy https://ClinicalTrials.gov/show/NCT01826487 Completed PTC Therapeutics 2015-08-31
NCT01793090 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment https://ClinicalTrials.gov/show/NCT01793090 Completed Bambino Gesù Hospital and Research Institute 2013-07-31
NCT01734486 Growth Response in Girls With Turner Syndrome https://ClinicalTrials.gov/show/NCT01734486 Completed Novo Nordisk A/S 2003-05-21
NCT01727973 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves’ Orbitopathy https://ClinicalTrials.gov/show/NCT01727973 Completed Sun Yat-sen University 2013-11-30
NCT01710696 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome https://ClinicalTrials.gov/show/NCT01710696 Completed Novo Nordisk A/S 2004-07-26
NCT01631617 Effects of Treatments on Atopic Dermatitis https://ClinicalTrials.gov/show/NCT01631617 Recruiting National Institutes of Health Clinical Center (CC) 2022-01-01
NCT01563926 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency https://ClinicalTrials.gov/show/NCT01563926 Completed Novo Nordisk A/S 2002-10-10
NCT01529840 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome https://ClinicalTrials.gov/show/NCT01529840 Completed Novo Nordisk A/S 2005-09-30
NCT01518036 Use of Somatropin in Turner Syndrome https://ClinicalTrials.gov/show/NCT01518036 Completed Novo Nordisk A/S 2004-04-11
NCT01401257 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A https://ClinicalTrials.gov/show/NCT01401257 Completed Pharnext SA 2011-10-31
NCT01401244 Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers https://ClinicalTrials.gov/show/NCT01401244 Completed Novo Nordisk A/S 2011-09-27
NCT01399515 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa https://ClinicalTrials.gov/show/NCT01399515 Completed Seoul National University Hospital 2013-08-31
NCT01343953 Cord Blood Transplantation in Severe Aplastic Anemia https://ClinicalTrials.gov/show/NCT01343953 Completed Assistance Publique - Hôpitaux de Paris 2017-06-30
NCT04157595 Mackenzie’s Mission: The Australian Reproductive Carrier Screening Project https://ClinicalTrials.gov/show/NCT04157595 Enrolling by invitation Murdoch Childrens Research Institute 2021-12-31
NCT04126473 A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele https://ClinicalTrials.gov/show/NCT04126473 Recruiting Eloxx Pharmaceuticals, Inc. 2020-05-15
NCT04123626 A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene https://ClinicalTrials.gov/show/NCT04123626 Recruiting ProQR Therapeutics 2021-10-07
NCT04042402 Long Term Extension Study in Patients With Primary Hyperoxaluria https://ClinicalTrials.gov/show/NCT04042402 Enrolling by invitation Dicerna Pharmaceuticals, Inc. 2023-12-31
NCT03913143 A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) https://ClinicalTrials.gov/show/NCT03913143 Recruiting ProQR Therapeutics 2020-12-31
NCT03913130 Extension Study to Study PQ-110-001 (NCT03140969) https://ClinicalTrials.gov/show/NCT03913130 Active, not recruiting ProQR Therapeutics 2021-03-31
NCT03873285 Method of Genetic Analysis in Genodermatoses https://ClinicalTrials.gov/show/NCT03873285 Recruiting Queen Fabiola Children’s University Hospital 2021-11-30
NCT03872479 Single Ascending Dose Study in Participants With LCA10 https://ClinicalTrials.gov/show/NCT03872479 Recruiting Allergan 2024-03-22
NCT03862950 A Trial of Metformin in Individuals With Fragile X Syndrome (Met) https://ClinicalTrials.gov/show/NCT03862950 Recruiting University of Alberta 2022-05-31
NCT03861741 A Study to Evaluate the Feasibility of Screening Relatives of Patients Affected by Non-Syndromic Thoracic Aortic Diseases https://ClinicalTrials.gov/show/NCT03861741 Active, not recruiting University of Leicester 2020-12-31
NCT03847909 A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 https://ClinicalTrials.gov/show/NCT03847909 Recruiting Dicerna Pharmaceuticals, Inc. 2020-06-30
NCT03829176 Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder https://ClinicalTrials.gov/show/NCT03829176 Active, not recruiting Massachusetts General Hospital 2020-06-01
NCT03734588 Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors https://ClinicalTrials.gov/show/NCT03734588 Active, not recruiting Spark Therapeutics 2020-05-31
NCT03720470 Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical Therapy https://ClinicalTrials.gov/show/NCT03720470 Completed Pfizer 2019-12-27
NCT03718234 Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia https://ClinicalTrials.gov/show/NCT03718234 Recruiting University of Minnesota 2022-07-01
NCT03688594 Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities https://ClinicalTrials.gov/show/NCT03688594 Recruiting University Hospital, Strasbourg, France 2019-05-22
NCT03655678 A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia https://ClinicalTrials.gov/show/NCT03655678 Recruiting Vertex Pharmaceuticals Incorporated 2021-02-28
NCT03627767 Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects https://ClinicalTrials.gov/show/NCT03627767 Active, not recruiting Pfizer 2020-08-27
NCT03563066 Effect of Benralizumab in Atopic Dermatitis https://ClinicalTrials.gov/show/NCT03563066 Recruiting McMaster University 2019-07-31
NCT03548779 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 https://ClinicalTrials.gov/show/NCT03548779 Recruiting University of North Carolina, Chapel Hill 2021-05-31
NCT03420274 Ensuring Patients’ Informed Access to Noninvasive Prenatal Testing https://ClinicalTrials.gov/show/NCT03420274 Recruiting The Cleveland Clinic 2021-01-31
NCT01245374 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents https://ClinicalTrials.gov/show/NCT01245374 Completed Novo Nordisk A/S 2011-04-30
NCT00851409 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration https://ClinicalTrials.gov/show/NCT00851409 Completed Pharming Technologies B.V. 2010-03-31
NCT01518062 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome https://ClinicalTrials.gov/show/NCT01518062 Completed Novo Nordisk A/S 2003-09-30
NCT01529944 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 https://ClinicalTrials.gov/show/NCT01529944 Completed Novo Nordisk A/S 2008-10-31
NCT02717650 The Alfred Step Test Exercise Protocol Developed for Adults With Cystic Fibrosis: The A-STEP and A-STEPmax Study’s. https://ClinicalTrials.gov/show/NCT02717650 Recruiting The Alfred 2020-08-31
NCT03780257 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene https://ClinicalTrials.gov/show/NCT03780257 Recruiting ProQR Therapeutics 2021-12-31
NCT03738098 NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children https://ClinicalTrials.gov/show/NCT03738098 Active, not recruiting Icahn School of Medicine at Mount Sinai 2020-09-30
NCT00730314 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells https://ClinicalTrials.gov/show/NCT00730314 Completed Children’s Hospital Los Angeles 2015-08-31
NCT00694109 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia https://ClinicalTrials.gov/show/NCT00694109 Completed Kastle Therapeutics, LLC 2014-09-30
NCT00607373 Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia https://ClinicalTrials.gov/show/NCT00607373 Completed Kastle Therapeutics, LLC 2009-03-31
NCT00578435 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis https://ClinicalTrials.gov/show/NCT00578435 Completed Memorial Sloan Kettering Cancer Center 2008-08-31
NCT00477594 Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia https://ClinicalTrials.gov/show/NCT00477594 Completed Kastle Therapeutics, LLC 2011-03-31
NCT00458055 High-Density Lipoprotein (HDL) Treatment Study https://ClinicalTrials.gov/show/NCT00458055 Completed McGill University Health Centre/Research Institute of the McGill University Health Centre 2007-09-30
NCT00362180 Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration https://ClinicalTrials.gov/show/NCT00362180 Completed Kastle Therapeutics, LLC 2010-03-31
NCT00288704 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) https://ClinicalTrials.gov/show/NCT00288704 Completed Regeneron Pharmaceuticals 2008-06-30
NCT00262301 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema https://ClinicalTrials.gov/show/NCT00262301 Completed Pharming Technologies B.V. 2009-07-31
NCT00262288 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema https://ClinicalTrials.gov/show/NCT00262288 Completed Pharming Technologies B.V. 2007-01-31
NCT00261053 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema https://ClinicalTrials.gov/show/NCT00261053 Completed Pharming Technologies B.V. 2005-09-30
NCT00100230 DHA and X-Linked Retinitis Pigmentosa https://ClinicalTrials.gov/show/NCT00100230 Completed Retina Foundation of the Southwest 2012-05-31

Observational Studiess

#If less then 500 studies

nct_id brief_title link overall_status source primary_completion_date
NCT03435627 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) https://ClinicalTrials.gov/show/NCT03435627 Active, not recruiting Novo Nordisk A/S 2021-11-30
NCT03396042 Natural History Study of CEP290-Related Retinal Degeneration https://ClinicalTrials.gov/show/NCT03396042 Recruiting Allergan 2020-12-31
NCT03401307 Central and Peripheral Nervous System Changes as Markers of Disease Progression in Multiple Sclerosis https://ClinicalTrials.gov/show/NCT03401307 Active, not recruiting University of Southern Denmark 2020-07-31
NCT03291392 CUHK Stroke Biobank https://ClinicalTrials.gov/show/NCT03291392 Recruiting Chinese University of Hong Kong 2025-12-31
NCT03065114 Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage https://ClinicalTrials.gov/show/NCT03065114 Completed Chung Shan Medical University 2015-11-30
NCT03043209 Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy https://ClinicalTrials.gov/show/NCT03043209 Recruiting The Cleveland Clinic 2020-12-31
NCT02946879 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) https://ClinicalTrials.gov/show/NCT02946879 Recruiting MeiraGTx UK II Ltd 2023-04-30
NCT02921321 Pilot Study of Cardiac MR in Patients With Muscular Dystrophy https://ClinicalTrials.gov/show/NCT02921321 Recruiting Children’s National Research Institute 2023-08-31
NCT02916888 A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and Specialists https://ClinicalTrials.gov/show/NCT02916888 Completed Yale University 2017-12-31
NCT02884063 Utilizing Free DNA in Embryo Culture for PGS https://ClinicalTrials.gov/show/NCT02884063 Completed Al Baraka Fertility Hospital 2018-12-01
NCT02769949 Pediatric Patients With Metabolic or Other Genetic Disorders https://ClinicalTrials.gov/show/NCT02769949 Recruiting National Institutes of Health Clinical Center (CC) 2029-01-01
NCT02670694 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW https://ClinicalTrials.gov/show/NCT02670694 Completed Baylor College of Medicine 2013-07-31
NCT02650622 Genetic and Metabolic Disease in Children https://ClinicalTrials.gov/show/NCT02650622 Recruiting University of Texas Southwestern Medical Center 2022-05-31
NCT02257892 Novel Genetic Disorders of the Immune System https://ClinicalTrials.gov/show/NCT02257892 Recruiting National Institutes of Health Clinical Center (CC) 2023-08-31
NCT00246857 Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death https://ClinicalTrials.gov/show/NCT00246857 Recruiting National Institutes of Health Clinical Center (CC) NA
NCT02450851 Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network https://ClinicalTrials.gov/show/NCT02450851 Recruiting National Institutes of Health Clinical Center (CC) 2028-12-31
NCT01500447 Inherited Reproductive Disorders https://ClinicalTrials.gov/show/NCT01500447 Recruiting National Institutes of Health Clinical Center (CC) NA
NCT00001373 Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics https://ClinicalTrials.gov/show/NCT00001373 Recruiting National Institutes of Health Clinical Center (CC) NA
NCT02551081 Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units https://ClinicalTrials.gov/show/NCT02551081 Recruiting Children’s Hospital of Fudan University 2020-12-30
NCT02429947 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients https://ClinicalTrials.gov/show/NCT02429947 Completed University of South Florida 2013-06-30
NCT02416440 Durban Diabetes Study:A Study of the Epidemiology of Diabetes Mellitus in Urban South Africans of African Descent (DDS) https://ClinicalTrials.gov/show/NCT02416440 Completed University of KwaZulu 2015-02-28
NCT02380729 Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality https://ClinicalTrials.gov/show/NCT02380729 Completed Charite University, Berlin, Germany 2017-06-30
NCT02266615 Biobank Clinical Genetics Maastricht (KG01) https://ClinicalTrials.gov/show/NCT02266615 Recruiting Maastricht University Medical Center 2018-03-31
NCT02156102 Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study) https://ClinicalTrials.gov/show/NCT02156102 Recruiting National Institutes of Health Clinical Center (CC) 2021-12-31
NCT01279733 Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis https://ClinicalTrials.gov/show/NCT01279733 Completed Columbia University 2011-10-31
NCT01851447 Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy https://ClinicalTrials.gov/show/NCT01851447 Active, not recruiting National Institutes of Health Clinical Center (CC) 2021-02-20
NCT01694940 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) https://ClinicalTrials.gov/show/NCT01694940 Recruiting Columbia University 2025-12-31
NCT01645904 A Social Media Approach to Improve Genetic Risk Communication Phase I https://ClinicalTrials.gov/show/NCT01645904 Active, not recruiting M.D. Anderson Cancer Center 2020-02-29
NCT01604161 Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner Syndrome https://ClinicalTrials.gov/show/NCT01604161 Completed Novo Nordisk A/S 2015-06-30
NCT01543867 Safety and Efficacy of Long-term Somatropin Treatment in Children https://ClinicalTrials.gov/show/NCT01543867 Completed Novo Nordisk A/S 2011-12-31
NCT01517048 Brain-Derived Neurotrophic Factor in Obesity and Brain Function https://ClinicalTrials.gov/show/NCT01517048 Completed National Institutes of Health Clinical Center (CC) NA
NCT01516229 Special Survey for Long Term Application https://ClinicalTrials.gov/show/NCT01516229 Completed Novo Nordisk A/S 2007-03-31
NCT01435629 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin https://ClinicalTrials.gov/show/NCT01435629 Completed Novo Nordisk A/S 2015-12-04
NCT01327924 Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone https://ClinicalTrials.gov/show/NCT01327924 Completed Novo Nordisk A/S 2012-06-30
NCT04428710 Assessment Psychological Distress for Cancer Heredity Test https://ClinicalTrials.gov/show/NCT04428710 Recruiting Hospital Universitario La Fe 2020-12-31
NCT04399694 Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders https://ClinicalTrials.gov/show/NCT04399694 Recruiting Duke University 2022-04-30
NCT04208529 A Long-term Follow-up Study in Subjects Who Received CTX001 https://ClinicalTrials.gov/show/NCT04208529 Enrolling by invitation Vertex Pharmaceuticals Incorporated 2039-09-30
NCT03998540 Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy https://ClinicalTrials.gov/show/NCT03998540 Recruiting University Hospital, Montpellier 2021-06-30
NCT03984266 The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects https://ClinicalTrials.gov/show/NCT03984266 Recruiting Children’s Hospital of Chongqing Medical University 2021-07-31
NCT03918707 Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study https://ClinicalTrials.gov/show/NCT03918707 Recruiting University of Illinois College of Medicine at Peoria 2022-01-31
NCT03911531 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops https://ClinicalTrials.gov/show/NCT03911531 Recruiting Thomas Jefferson University 2021-06-30
NCT03884426 Genetic and Phenotypic Characteristics of Mitral Valve Prolapse https://ClinicalTrials.gov/show/NCT03884426 Recruiting Nantes University Hospital 2019-12-31
NCT03855631 Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders https://ClinicalTrials.gov/show/NCT03855631 Active, not recruiting University Hospital, Montpellier 2019-10-30
NCT03802279 Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses https://ClinicalTrials.gov/show/NCT03802279 Recruiting Assistance Publique - Hôpitaux de Paris 2021-06-25
NCT03721458 Whole Genome Sequencing in the Neonatal Intensive Care Unit https://ClinicalTrials.gov/show/NCT03721458 Enrolling by invitation Milton S. Hershey Medical Center 2021-06-30
NCT03642405 Drug-induced Repolarization ECG Changes https://ClinicalTrials.gov/show/NCT03642405 Active, not recruiting Copenhagen University Hospital at Herlev 2019-09-03
NCT03589079 Delineation of Novel Monogenic Disorders in the United Arab Emirates Population https://ClinicalTrials.gov/show/NCT03589079 Recruiting Imperial College London Diabetes Centre 2021-01-31
NCT03587155 Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation https://ClinicalTrials.gov/show/NCT03587155 Recruiting First Hospital of Jilin University 2018-12-31
NCT03458962 Diagnostic Odyssey: Whole Genome Sequencing (WGS) https://ClinicalTrials.gov/show/NCT03458962 Enrolling by invitation Nicklaus Children’s Hospital f/k/a Miami Children’s Hospital 2070-03-31
NCT01025024 Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients https://ClinicalTrials.gov/show/NCT01025024 Completed Chungnam National University 2009-10-31
NCT00960128 Observational Prospective Study on Patients Treated With Norditropin® https://ClinicalTrials.gov/show/NCT00960128 Completed Novo Nordisk A/S 2016-12-31
NCT00852943 Screening Protocol for Genetic Diseases of Allergic Inflammation https://ClinicalTrials.gov/show/NCT00852943 Recruiting National Institutes of Health Clinical Center (CC) NA
NCT03931707 The China Neonatal Genomes Project https://ClinicalTrials.gov/show/NCT03931707 Recruiting Children’s Hospital of Fudan University 2021-12-30
NCT03624374 Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) https://ClinicalTrials.gov/show/NCT03624374 Recruiting Hugo W. Moser Research Institute at Kennedy Krieger, Inc. 2023-05-31
NCT00811512 Fundus Changes in the Microphthalmy Eyes https://ClinicalTrials.gov/show/NCT00811512 Completed Hospital de Olhos Sadalla Amin Ghanem 2008-09-30
NCT01294345 Personalized Genomic Research https://ClinicalTrials.gov/show/NCT01294345 Recruiting National Institutes of Health Clinical Center (CC) NA
NCT00368446 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease https://ClinicalTrials.gov/show/NCT00368446 Completed National Institutes of Health Clinical Center (CC) NA
NCT03876301 Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants https://ClinicalTrials.gov/show/NCT03876301 Active, not recruiting Spark Therapeutics 2020-07-31
NCT00705172 Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome https://ClinicalTrials.gov/show/NCT00705172 Completed Novo Nordisk A/S 2008-11-30
NCT00705055 Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders. https://ClinicalTrials.gov/show/NCT00705055 Completed Carmel Medical Center 2013-12-30
NCT00359580 Genetic Studies in the Amish and Mennonites https://ClinicalTrials.gov/show/NCT00359580 Completed National Institutes of Health Clinical Center (CC) NA
NCT00359411 Genetic Studies of X-linked Lymphoproliferative Disease https://ClinicalTrials.gov/show/NCT00359411 Completed National Institutes of Health Clinical Center (CC) NA
NCT00323167 Rare Genetic Disorders of the Breathing Airways https://ClinicalTrials.gov/show/NCT00323167 Completed University of North Carolina, Chapel Hill 2012-10-31
NCT00001466 Study of Clinical and Molecular Manifestations of Genetic Disorders https://ClinicalTrials.gov/show/NCT00001466 Completed National Institutes of Health Clinical Center (CC) NA
NCT00025870 Studies of Children With Metabolic and Other Genetic Disorders https://ClinicalTrials.gov/show/NCT00025870 Completed National Institutes of Health Clinical Center (CC) NA
NCT00001898 Microarray Analysis for Human Genetic Disease https://ClinicalTrials.gov/show/NCT00001898 Completed National Institutes of Health Clinical Center (CC) NA
NCT00001405 Use of G-CSF to Obtain Blood Cell Precursors https://ClinicalTrials.gov/show/NCT00001405 Recruiting National Institutes of Health Clinical Center (CC) NA

Registries

#If less then 500 registries

nct_id brief_title link overall_status source primary_completion_date
NCT03321604 Kidney Information Network for Disease Research and Education https://ClinicalTrials.gov/show/NCT03321604 Recruiting Massachusetts General Hospital 2022-01-31
NCT03084224 Implementation of Molecular Diagnostic Pathways https://ClinicalTrials.gov/show/NCT03084224 Recruiting Neuromed IRCCS 2019-12-31
NCT02917070 Parental Consanguinity and Family History of Kidney Disease in Turkish Kidney Disease Population https://ClinicalTrials.gov/show/NCT02917070 Completed Istanbul University 2016-05-31
NCT02160938 Prenatal Microarray Follow-Up Study https://ClinicalTrials.gov/show/NCT02160938 Completed Columbia University 2018-12-31
NCT03967743 Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders https://ClinicalTrials.gov/show/NCT03967743 Recruiting Boston Children’s Hospital 2024-06-01
NCT03963271 Noninvasive Electrocardiographic Imaging for Individuals at Risk for Apparently Idiopathic Ventricular Fibrillation. https://ClinicalTrials.gov/show/NCT03963271 Enrolling by invitation Maastricht University Medical Center 2023-04-10